Evolution and functional impact of rare coding variation from deep sequencing of human exomes (Q29617587)

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22604720

30 April 2017

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high-throughput nucleotide sequencing

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single-nucleotide polymorphism

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Abecasis G

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Boerwinkle E

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Altshuler D

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Gabriel S

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Bustamante CD

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Leal SM

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author name string

Tennessen JA

1

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Bigham AW

2

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O'Connor TD

3

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Fu W

4

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Kenny EE

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Gravel S

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McGee S

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Do R

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Liu X

9

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Jun G

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Kang HM

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Jordan D

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Rieder MJ

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Nickerson DA

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Sunyaev S

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22604720

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Bamshad MJ

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22604720

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Akey JM

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22604720

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22604720

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language of work or name

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publication date

6 July 2012

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22604720

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volume

337

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page(s)

64-9

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issue

6090

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on focus list of Wikimedia project

30 April 2017

ScienceSource

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cites work

Exome sequencing as a tool for Mendelian disease gene discovery

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708544

Accurate and comprehensive sequencing of personal genomes

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708544

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708544

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708544

Sequencing of 50 human exomes reveals adaptation to high altitude

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708544

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708544

Genetic heterogeneity in human disease

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708544

Exome sequencing identifies the cause of a mendelian disorder

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708544

Finding the missing heritability of complex diseases

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708544

Targeted capture and massively parallel sequencing of 12 human exomes

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708544

Worldwide human relationships inferred from genome-wide patterns of variation

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708544

A second generation human haplotype map of over 3.1 million SNPs

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708544

A haplotype map of the human genome

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708544

Solving the riddle of codon usage preferences: a test for translational selection

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708544

Population history and natural selection shape patterns of genetic variation in 132 genes

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708544

Evolutionary Rate at the Molecular Level

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708544

Adaptive protein evolution at the Adh locus in Drosophila

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708544

Fast and accurate short read alignment with Burrows-Wheeler transform

30 April 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1219240

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 May 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1219240

Mapping short DNA sequencing reads and calling variants using mapping quality scores

1 May 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1219240

A map of human genome variation from population-scale sequencing

1 May 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1219240

A method and server for predicting damaging missense mutations

1 May 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1219240

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 May 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1219240

MutationTaster evaluates disease-causing potential of sequence alterations

1 May 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1219240

Distribution and intensity of constraint in mammalian genomic sequence

1 May 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1219240

Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data

1 May 2017

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1219240

Rare and common variants: twenty arguments

1 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708544

The functional spectrum of low-frequency coding variation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708544

Demographic history and rare allele sharing among human populations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708544

Deep resequencing reveals excess rare recent variants consistent with explosive population growth

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708544

Rare variant association analysis methods for complex traits

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708544

Signatures of positive selection apparent in a small sample of human exomes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708544

Constructing genomic maps of positive selection in humans: where do we go from here?

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708544

Power of deep, all-exon resequencing for discovery of human trait genes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708544

Correcting estimators of theta and Tajima's D for ascertainment biases caused by the single-nucleotide polymorphism discovery process

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708544

Proportionally more deleterious genetic variation in European than in African populations.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708544

Statistical properties of segregating sites

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708544

Computational neuroanatomy of speech production.

3 June 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1219240

A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1219240

Low-coverage sequencing: implications for design of complex trait association studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1219240

Robust relationship inference in genome-wide association studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1219240

Identification of deleterious mutations within three human genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1219240

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1219240

Patterns of genetic variation in Mendelian and complex traits

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1219240

Translation efficiency in humans: tissue specificity, global optimization and differences between developmental stages

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1219240

21 January 2018

Identifiers

DOI

10.1126/SCIENCE.1219240

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22604720

30 April 2017

257404

257404

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22604720

2 references

30 April 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22604720

2 references

30 April 2017